DXS26 (HU16) is located in Xq21.1

Abstract

We have localized a single-copy DNA probe, HU16 (locus DXS26), to Xq21.1. The probe was isolated from a human-mouse hybrid X;13 library and mapped with human-mouse hybrids containing different portions of the human X chromosome and DNA from male patients with different X-chromosomal deletions. The following order of loci is proposed: Xcen-(DXS72,DXS169)-(DXS232,DSX26)-DXS1 21-DXS233-DXS165-TCD-DXS95-DXYS1-Xqter. HU16 will be useful in the study of the putative genes that reside in Xq21 and whose defects lead to deafness and mental retardation.

A Novel Ribosomal S6-Kinase (RSK4; RPS6KA6) Is Commonly Deleted in Patients with Complex X-Linked Mental Retardation

“…Patients with a deletion in Xq21 have been described previously (reviewed in Philippe et al, 1995). DNA from CHM patient LGL2905 (Sankila et al, 1990), patient AP (van der , who suffers from CHM and MR, and DFN3 patients TD (Bach et al, 1992b), EP, and VS (de Kok et al, 1996) has been examined for narrowing down the MRX critical interval. Clinical data and blood samples of MRX(S) families tested in SSCP analysis were obtained after informed consent.…”

“…Sizable deletions have also been found in patients with nonsyndromic DFN3 or CHM (Bach et al, 1992b;Cremers et al, 1990a;de Kok et al, 1996;Huber et al, 1994;Sankila et al, 1990;van Bokhoven et al, 1994a) and in one patient with MRX and CHM . Physical finemapping of the Xq21 deletions previously enabled us to clone the genes underlying CHM and DFN3, denoted REP-1 and POU3F4, respectively (Cremers et al, 1990b;de Kok et al, 1995;van Bokhoven et al, 1994b).…”

“…1) (data not shown). This cDNA clone was used to screen a human LGL2905 (Sankila et al, 1990) suffers from CHM; AP suffers from CHM and MR; and patients TD (Bach et al, 1992b), EP, and VS (de Kok et al, 1996) suffer from DFN3. (B) The RSK4 gene spans approximately 75 kb.…”